Incidental Mutation 'R3791:Qtrt1'
| ID |
272538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qtrt1
|
| Ensembl Gene |
ENSMUSG00000002825 |
| Gene Name |
queuine tRNA-ribosyltransferase catalytic subunit 1 |
| Synonyms |
tRNA-guanine transglycosylase, Tgt, 2610028E17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R3791 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21323133-21331570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21330636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 279
(D279N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002902]
[ENSMUST00000214681]
[ENSMUST00000216527]
|
| AlphaFold |
Q9JMA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002902
AA Change: D279N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
AA Change: D279N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
142 |
376 |
1.4e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216277
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217188
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217060
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice heterozygous or homozygous for a gene trap allele exhibit reduced phenylalanine conversion to tyrosine and reduced cell levels of queuosine-modified tRNA. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
possibly damaging |
Het |
|
| Other mutations in Qtrt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Qtrt1
|
APN |
9 |
21,330,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02048:Qtrt1
|
APN |
9 |
21,328,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Qtrt1
|
APN |
9 |
21,328,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02299:Qtrt1
|
APN |
9 |
21,323,245 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0496:Qtrt1
|
UTSW |
9 |
21,330,844 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0625:Qtrt1
|
UTSW |
9 |
21,329,584 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1173:Qtrt1
|
UTSW |
9 |
21,323,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1174:Qtrt1
|
UTSW |
9 |
21,323,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1250:Qtrt1
|
UTSW |
9 |
21,330,844 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1563:Qtrt1
|
UTSW |
9 |
21,330,607 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4997:Qtrt1
|
UTSW |
9 |
21,328,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6057:Qtrt1
|
UTSW |
9 |
21,323,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Qtrt1
|
UTSW |
9 |
21,323,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Qtrt1
|
UTSW |
9 |
21,323,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Qtrt1
|
UTSW |
9 |
21,330,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Qtrt1
|
UTSW |
9 |
21,331,392 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2015-03-25 |
Incidental Mutation